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rs778284147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common/normal


Make rs778284147(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100294
GeneLDLR
is asnp
is mentioned by
dbSNPrs778284147
ebirs778284147
HLIrs778284147
Exacrs778284147
Varsomers778284147
Maprs778284147
PheGenIrs778284147
hapmaprs778284147
1000 genomesrs778284147
hgdprs778284147
ensemblrs778284147
gopubmedrs778284147
geneviewrs778284147
scholarrs778284147
googlers778284147
pharmgkbrs778284147
gwascentralrs778284147
openSNPrs778284147
23andMers778284147
23andMe allrs778284147
SNP Nexus

SNPshotrs778284147
SNPdbers778284147
MSV3drs778284147
GWAS Ctlgrs778284147
Max Magnitude4
This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]
ClinVar
Risk rs778284147(A;A)
Alt rs778284147(A;A)
Reference rs778284147(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210970G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238312.1,